Lipidosis with triglyceride storage disease (also known as neutral lipid storage disease) is a rare group of diseases involving an error in the breakdown and processing (metabolism) of lipids (fats) and their abnormal accumulation in the cells of many tissues throughout the body. There are currently two forms that are distinguishable, neutral lipid storage disease with ichthyosis (see also: NLSDI or Chanarin-Dorfman disease.) and neutral lipid storage disease with myopathy (see also: NLSDM.). In NLSDI, approximately 95% of affected individuals have dry, scaly skin (ichthyosis), intellectual impairment, moderate muscular weakness (myopathy), enlarged and/or impaired liver function, 60% have vision abnormalities, 40% have hearing impairment and 20% have short stature. NLSDM is characterized by adult onset slowly progressive (worsening) muscle weakening affecting the proximal muscles arms and legs (upper portions). About half of affected persons develop heart disease, diabetes, high triglyglercides in the blood, accumulation of fat in the liver and hearing loss.
Both forms are inherited in an autosomal recessive manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error (mutation) occurs in a gene, it can cause problems. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, each of their children have a one in four chance (25%) of having the disease.